Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome

Objectives: Copy Number Variations (CNVs) in the human genome account for common populational variations but can also be responsible for genetic syndromes depending on the affected region. Although a deletion in 5p is responsible for a syndrome with highly recognizable phenotypical features, other chromosomal abnormalities might overlap phenotypes, especially considering that most studies in 5p use traditional cytogenetic techniques and not molecular techniques. Methods: The authors have investigated 29 patients with clinical suspicion of 5p- syndrome using Chromosomal Microarray (CMA), and have gathered information on previous tests, clinical signs, symptoms, and development of the patients. Results: The results showed 23 pure terminal deletions, one interstitial deletion, one deletion followed by a 3 Mb duplication in 5p, three cases of 5p deletion concomitant to duplications larger than 20 Mb in chromosomes 2, 9, and 18, and one 5p deletion with a chromosome Y deletion. CMA showed relevant CNVs not typically associated with 5p- that may have contributed to the final phenotype in these patients. Conclusions: The authors have identified three novel rearrangements between chromosomes 5 and 2 (Patient 27), 5 and 18 (Patient 11), and 5 and Y (Patient 22), with breakpoints and overlapped phenotypes that were not previously described. The authors also highlight the need for further molecular investigation using CMA, in different chromosomes beyond chromosome 5 (since those cases did not show only the typical deletion expected for the 5p- syndrome) to explain discordant chromosomal features and overlapped phenotypes to unravel the cause of the syndrome in atypical cases

Lawson criterion for ignition exceeded in an inertial fusion experiment

For more than half a century, researchers around the world have been engaged in attempts to achieve fusion ignition as a proof of principle of various fusion concepts. Following the Lawson criterion, an ignited plasma is one where the fusion heating power is high enough to overcome all the physical processes that cool the fusion plasma, creating a positive thermodynamic feedback loop with rapidly increasing temperature. In inertially confined fusion, ignition is a state where the fusion plasma can begin "burn propagation" into surrounding cold fuel, enabling the possibility of high energy gain. While "scientific breakeven" (i.e., unity target gain) has not yet been achieved (here target gain is 0.72, 1.37 MJ of fusion for 1.92 MJ of laser energy), this Letter reports the first controlled fusion experiment, using laser indirect drive, on the National Ignition Facility to produce capsule gain (here 5.8) and reach ignition by nine different formulations of the Lawson criterion

Plasma cavitation in ultraintense laser interactions with underdense helium plasmas

Plasma cavitation in an underdense helium plasma driven by an ultraintense laser pulse (I > 10(20) W cm(-2)) is studied. Shadowgraphy and interferometry diagnose plasma channel formation as the laser pulse propagates through the underdense plasma. Measurements of the spatially resolved Thomson side-scattered light generated by the intense-driver pulse indicate the transverse and longitudinal extremities of the cavitated regions that form. Multiple laser-driven channels are observed and each is shown to be a source of electrons with energies greater than 100 MeV. Electron cavitation within an ion channel is consistent with the direct laser acceleration (DLA) mechanism that is present

Collimated multi-MeV ion beams from high-intensity laser interactions with underdense plasma

A beam of multi-MeV helium ions has been observed from the interaction of a short-pulse high-intensity laser pulse with underdense helium plasma. The ion beam was found to have a maximum energy for He2+ of (40(-8)(+3)) MeV and was directional along the laser propagation path, with the highest energy ions being collimated to a cone of less than 10 degrees. 2D particle-in-cell simulations show that the ions are accelerated by a sheath electric field that is produced at the back of the gas target. This electric field is generated by transfer of laser energy to a hot electron beam, which exits the target generating large space-charge fields normal to its boundary